Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 7 | 100103553 | intron variant | G/A | snv | 0.56 | 0.46 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
2 | 1.000 | 0.080 | 15 | 100541858 | intron variant | A/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 14 | 100734443 | synonymous variant | T/C | snv | 1.1E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
9 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.020 | 0.500 | 2 | 2014 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 100996153 | 3 prime UTR variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 10 | 101553963 | 3 prime UTR variant | AACAGTGGA/- | del | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.807 | 0.160 | 2 | 102343821 | 3 prime UTR variant | C/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.732 | 0.200 | 11 | 102718452 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
25 | 0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | X | 102963359 | intergenic variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.900 | 0.833 | 12 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 10360860 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.070 | 1.000 | 7 | 2008 | 2019 | |||
|
9 | 0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
12 | 0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 10 | 104278136 | intron variant | T/C | snv | 0.45 | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 10 | 104300451 | 3 prime UTR variant | T/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 | 0.010 | 1.000 | 1 | 2018 | 2018 |